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  1. 医学医療系 (Faculty of Medicine)
  2. 野口 惠美子 (Noguchi Emiko)
  1. 研究科 (Graduate School)
  2. 人間総合科学研究科 (Graduate School of Comprehensive Human Sciences)
  3. 大塚 藤男 (Otsuka Fujio)
  1. 研究科 (Graduate School)
  2. 人間総合科学研究科 (Graduate School of Comprehensive Human Sciences)
  3. 有波 忠雄 (Arinami Tadao)
  1. コンテンツタイプ (Contents Type)
  2. 雑誌発表論文等 (Journal article, etc.)
  3. J~
  4. Journal of human genetics

Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case–control study

http://hdl.handle.net/2241/103681
0bb3c9e1-314b-4ae2-921c-fbe60be1dc3f
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JHG_53-7.pdf JHG_53-7.pdf (96.8 kB)
item type Journal Article(1)
公開日 2009-09-25
タイトル
タイトル Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case–control study
言語
言語 eng
資源タイプ
タイプ journal article
著者 Enomoto, Hisako

× Enomoto, Hisako

WEKO 65160

Enomoto, Hisako

Search repository
Hirata, Kenji

× Hirata, Kenji

WEKO 65161

Hirata, Kenji

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Otsuka, Kenta

× Otsuka, Kenta

WEKO 65162

Otsuka, Kenta

Search repository
Kawai, Toshiharu

× Kawai, Toshiharu

WEKO 65163

Kawai, Toshiharu

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Takahashi, Takenori

× Takahashi, Takenori

WEKO 65164

Takahashi, Takenori

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Hirota, Tomomitsu

× Hirota, Tomomitsu

WEKO 65165

Hirota, Tomomitsu

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Suzuki, Yoichi

× Suzuki, Yoichi

WEKO 65166

Suzuki, Yoichi

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Tamari, Mayumi

× Tamari, Mayumi

WEKO 65167

Tamari, Mayumi

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Otsuka, Fujio

× Otsuka, Fujio

WEKO 65168

Otsuka, Fujio

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Fujieda, Shigeharu

× Fujieda, Shigeharu

WEKO 65169

Fujieda, Shigeharu

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Arinami, Tadao

× Arinami, Tadao

WEKO 65170

Arinami, Tadao

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Noguchi, Emiko

× Noguchi, Emiko

WEKO 65171

Noguchi, Emiko

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著者別名 大塚, 藤男

× 大塚, 藤男

WEKO 65172

大塚, 藤男

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有波, 忠雄

× 有波, 忠雄

WEKO 191

有波, 忠雄

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野口, 惠美子

× 野口, 惠美子

WEKO 369
e-Rad 40344882
筑波大学研究者総覧 0000002344

野口, 惠美子

Search repository
抄録
内容記述 Filaggrin (FLG) plays an important role in the barrier function of the skin. Several loss-of-function mutations in the FLG gene have been identified in patients with ichthyosis vulgaris, and these null mutations are associated with atopic dermatitis (AD) development. In this study, we examined tag single nucleotide polymorphisms (tSNPs) and null mutations in FLG for possible associations with AD and atopic phenotypes in a Japanese population. Transmission disequilibrium test of 105 AD families showed that the null allele of the S2554X variant of FLG tended to be overtransmitted to AD-affected offspring; however, the P value did not reach statistical significance. In a case–control comparison of 376 AD cases and 923 nonallergic controls, the null allele of S2554X was significantly associated with AD (P = 0.0012), and the association was strengthened in subjects with AD alone (P = 0.000024). We found that 3321delA and S2554X were also associated with elevated levels of immunoglobulin E (IgE). Combined null mutation carriers were observed more in AD patients and in subjects with high IgE than in control subjects. The combined P value for the family and case–control data was significant for the S2554X and combined null mutations. Our data further support the importance of FLG in AD development.
書誌情報 Journal of human genetics

巻 53, 号 7, p. 615-621, 発行日 2008-07
ISSN
収録物識別子 1434-5161
書誌レコードID
収録物識別子 AA11206160
PubMed番号
関連識別子
関連識別子 18521703
DOI
関連識別子
関連識別子 10.1007/s10038-008-0293-z
権利
権利情報 © The Japan Society of Human Genetics and Springer 2008
権利
権利情報 The original publication is available at www.springerlink.com
著者版フラグ
値 author
出版者
出版者 Springer Japan
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